ISSN:0148-7299    

DOI:10.1002/ajmg.1320550103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractObesity and renal failure are common manifestations in the autosomal recessive Bardet‐Biedl (BB) syndrome. Because obesity and hypertension have been reported frequently in non‐homozygous relatives of BB patients, we hypothesized that BB heterozygotes are predisposed to these conditions. Clinical information was collected from 34 parents of BB homozygotes, who are obligate heterozygotes. The proportion of severely overweight fathers (26.7%) was significantly higher than that in comparably aged United States white males (8.9%). We conclude that the BB gene may predispose male heterozygous carriers to obesity. If BB heterozygotes are 1% of the general population, we estimate that approximately 2.9% of all severely overweight white males carry a single BB gene. The BB parents of both sexes were also significantly taller than U.S. white men and women of comparable age. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe describe a 5‐year‐old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)‐chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone‐shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD‐chondroectodermal dysplasia may be situated at 12p11.21p12.2. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on a young girl with psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiological findings of spondylo‐epiphyseal dysplasia. The clinical picture resembles the CODAS syndrome described by Shebib et al. [Am J Med Genet 40:88–93, 1991]. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on two unrelated patients with different presentations of mannosidosis. One patient was affected in early childhood with a severe phenotype characteristic of type I mannosidosis. The other was diagnosed with type II mannosidosis only after the onset of progressive neurologic deterioration in late adulthood. Both were detected by non‐invasive urinary screening of oligosaccharides. Lymphoblasts transformed from both patients' blood cells had markedly reduced lysosomal α‐mannosidase activity. Kinetic analyses showed that α‐mannosidase from the type I patient had a 400‐fold reduction in affinity while that from the type II patient was reduced 40‐fold. Lymphoblasts from all 4 parents had reduced α‐mannosidase activity, but there were overlapping activities among these type I and type II obligate heterozygotes. We conclude that screening urinary oligosaccharides will detect mannosidosis over a wide range of phenotypes, that lymphoblasts transformed from affected heterozygotes have decreased enzymatic activity, and that the severity of clinical expression is related to the degree of enzyme impairment. © 1995

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractThe combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11‐p14.1). © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient's phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion. © 1995 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractThe phenotype of dup(3q) syndrome partially overlaps with Brachmann‐de Lange phenotype. Convulsions and eye, palate renal, and cardiac anomalies are more frequent in dup(3q) syndrome, while limb deficiencies, hirsutism, and synophrys are more characteristic of Brachmann‐de Lange syndrome. Whether the two syndromes have a biological relationship has yet to be demonstrated. Using two patient translocation cell lines, each involving distal 3q, we have narrowed the critical region of the dup(3q) syndrome to the interval 3q26.31–q27.3 and initiated its molecular characterization. We have mapped in this region 6 cosmid clones spanning approximately 3–5 Mb. The critical region appears to overlap with the region where a balanced translocation was found in a Brachmann‐de Lange patient. This work provides the mapping framework for finer molecular analysis of dup(3q) syndrome. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe describe a boy who developed precocious puberty resulting from chorionic gonadotropin produced by a mediastinal germ cell tumor. Following tumor removal he began spontaneous precocious sexual development which was treated and then arrested spontaneously. Investigation of this arrested puberty established that he had Klinefelter syndrome (KS) mosaicism. He represents the first instance of KS mosaicism reported with a mediastinal germ cell tumor, a neoplasm commonly reported in males with a 47,XXY karyotype. We recommend that all males with KS and early sexual development or with “normal” testicular growth be screened with measurement of germ cell tumor markers including β‐subunit of human chorionic gonadotropin and α‐fetoprotein. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320550112

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY